The following is an excerpt from Vector, Boston Children’s Hospital’s blog about research and innovation in pediatric and adult medicine.
In Google Maps, you can zoom in and see traffic jams between you and your destination, locate nearby restaurants and find out their hours. Parents Geraldine Bliss and Megan O’Boyle from the Phelan-McDermid Syndrome Foundation (PMSF), together with data scientist Paul Avillach, MD, PhD, have accomplished an analogous feat for Phelan-McDermid Syndrome.
In 2011, the PMSF created the Phelan-McDermid International Registry. It allows families to input their children’s medical information, prompted by 300 questions, and freely retrieve it. Of the 1,800 patients diagnosed with the syndrome to date, more than 1,100 are enrolled.
But Bliss and O’Boyle wanted to make even more data available to researchers, to help them better understand Phelan-McDermid and develop treatments.
Around this time, the Patient-Centered Outcomes Research Institute (PCORI) was funding “blue button” initiatives to help patients access and use their data. But to apply for a grant, the Foundation needed an academic partner.
Searching “blue button” and “autism” online, Bliss found Isaac Kohane, MD, PhD, [then] head of the Computational Health Informatics Program (CHIP) at Boston Children’s and [now] chair of the Department of Biomedical Informatics (DBMI) at Harvard Medical School. Kohane steered Bliss and O’Boyle to Avillach, who was looking for a good “big data” challenge.
Avillach left his tenured position in France to join the faculty at Boston Children’s Hospital and HMS’s Department of Biomedical Informatics. He and the PMSF got a $1 million PCORI grant in 2013, and the Phelan-McDermid Syndrome Data Network, or PMS_DN, was born. O’Boyle is principal investigator.